Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

2019 ◽  
Vol 96 (5) ◽  
pp. 394-401 ◽  
Author(s):  
Zine‐Eddine Kherraf ◽  
Caroline Cazin ◽  
Charles Coutton ◽  
Amir Amiri‐Yekta ◽  
Guillaume Martinez ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Morphological Abnormalities ◽  
Whole Exome

scholarly journals Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations

2016 ◽  
Vol 31 (12) ◽  
pp. 2872-2880 ◽  
Author(s):  
Amir Amiri-Yekta ◽  
Charles Coutton ◽  
Zine-Eddine Kherraf ◽  
Thomas Karaouzène ◽  
Pauline Le Tanno ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Morphological Abnormalities ◽  
Familial Cases ◽  
Whole Exome

scholarly journals Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

2018 ◽  
Vol 33 (10) ◽  
pp. 1973-1984 ◽  
Author(s):  
Guillaume Martinez ◽  
Zine-Eddine Kherraf ◽  
Raoudha Zouari ◽  
Selima Fourati Ben Mustapha ◽  
Antoine Saut ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Morphological Abnormalities ◽  
Whole Exome

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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